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Volume 6
Issue 2
Online publication date 2011-04-04
Title Neural tube defects and polymorphism of methylenetetrahydrofolate reductase gene in Kazakh population
Author Zhanar Makhmutova, Gulnara Svyatova

The mutations of MTHFR gene in various populations are considered as risk factors for neural tube defects. The frequencies of MTHFR genotypes among the mothers of NTD cases were: ССаа - 15,4%, ССас - 15.4%, ССсс - 10%, СТаа - 16.9%, СТас - 30.8%, СТсс - 6.9%, ТТаа - 3.8%, ТТас - 0.8%.  The frequencies of this genotypes among controls were: ССаа - 29%, ССас - 21%, ССсс - 6%, СТаа - 30%, СТас - 13%, СТсс - 1%, ТТаа - 1%. Thus, the frequencies of СТас, СТсс, ТТаа, ТТас genotypes of С677Т and А1298С polymorphisms of MTHFR in the basic group authentically exceed similar parameters in the group of healthy control (р<0.05).

The research indicates on presence of clinical and diagnostic significance of the investigated polymorphisms of the MTHFR gene in the development of NTDs. Ascertainment of the etiologic aspects of fetal NTDs in the Kazakh population makes it possible to develop preventive measures and optimization of medical genetic counseling in order to reduce fetal NTDs in the population.
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Keywords Methylenetetrahydrofolate reductase, neural tube defects, polymorphism
Pages 7-11
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